DefinitionThis section has been translated automatically.
The CTPS1 gene (CTPS1 stands for CTP synthase 1) is a protein-coding gene located on chromosome 1p34.2. Alternative splicing leads to several transcript variants.
General informationThis section has been translated automatically.
The CTPS1 gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphosphate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids.
The CTPS1 enzyme plays a crucial role in the proliferation of activated lymphocytes and thus in immunological reactions.
The activity of this enzyme is important for the immune system, and loss of function of this gene has been associated with immunodeficiency syndrome.
Diseases associated with CTPS1 include (the very rare):
- Immunodeficiency 24
LiteratureThis section has been translated automatically.
- Kucuk ZY et al (2016) CTP Synthase 1 Deficiency in Successfully Transplanted Siblings with Combined Immune Deficiency and Chronic Active EBV Infection. J Clin Immunol 36:750-753.
- Martin E et al.(2014) CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. Nature 510: 288-292.
- Trück J et al. (2016) Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings. J Allergy Clin Immunol 138: 1722-1725.
